has material basis in germline mutation in PLA2G4A inherited bleeding disorder, platelet-type intestinal disorder cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder https://github.com/monarch-initiative/mondo/issues/9994 https://www.malacards.org/card/cytosolic_phospholipase_a2_alpha_deficiency_associated_bleeding_disorder https://www.malacards.org/card/gastrointestinal_ulceration_recurrent_with_dysfunctional_platelets An inherited bleeding disorder caused by a variation in the PLA2G4A gene, characterized by impaired arachidonic acid release, leading to markedly reduced thromboxane A2 and eicosanoid production, which causes dysfunctional platelet aggregation and mucocutaneous bleeding. Affected individuals develop early-onset gastrointestinal ulceration with recurrent bleeding, alongside laboratory evidence of impaired collagen-induced aggregation that is rescued by exogenous arachidonic acid. Loss-of-function PLA2G4A variants abolish cPLA2alpha activity in platelets and other cells, and functional studies demonstrate absent AA-dependent eicosanoid synthesis and prolonged bleeding time. GARD:0017857 platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder PLA2G4A-related platelet dysfunction UMLS:C5567651 Orphanet:477787 GURDP MEDGEN:1799074 OMIM:618372 PLA2G4A-related platelet dysfunction with gastrointestinal ulceration MONDO:0018794 inherited blood coagulation disorder